Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CNGB1 (cyclic nucleotide gated channel beta 1)

Identity

Alias_namesCNCG2
CNCG3L
Alias_symbol (synonym)RCNC2
RCNCb
GARP
GAR1
CNGB1B
RP45
Other aliasCNCG4
CNG4
GARP2
RCNCbeta
HGNC (Hugo) CNGB1
LocusID (NCBI) 1258
Atlas_Id 54224
Location 16q21  [Link to chromosome band 16q21]
Location_base_pair Starts at 57988580 and ends at 58005020 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IL34 (16q22.1) / CNGB1 (16q21)KIFC3 (16q21) / CNGB1 (16q21)IL34 16q22.1 / CNGB1 16q21
KIFC3 16q21 / CNGB1 16q21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CNGB1   2151
Cards
Entrez_Gene (NCBI)CNGB1  1258  cyclic nucleotide gated channel beta 1
AliasesCNCG2; CNCG3L; CNCG4; CNG4; 
CNGB1B; GAR1; GARP; GARP2; RCNC2; RCNCb; RCNCbeta; RP45
GeneCards (Weizmann)CNGB1
Ensembl hg19 (Hinxton)ENSG00000070729 [Gene_View]  chr16:57988580-58005020 [Contig_View]  CNGB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000070729 [Gene_View]  chr16:57988580-58005020 [Contig_View]  CNGB1 [Vega]
ICGC DataPortalENSG00000070729
TCGA cBioPortalCNGB1
AceView (NCBI)CNGB1
Genatlas (Paris)CNGB1
WikiGenes1258
SOURCE (Princeton)CNGB1
Genetics Home Reference (NIH)CNGB1
Genomic and cartography
GoldenPath hg19 (UCSC)CNGB1  -     chr16:57988580-58005020 -  16q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CNGB1  -     16q21   [Description]    (hg38-Dec_2013)
EnsemblCNGB1 - 16q21 [CytoView hg19]  CNGB1 - 16q21 [CytoView hg38]
Mapping of homologs : NCBICNGB1 [Mapview hg19]  CNGB1 [Mapview hg38]
OMIM600724   613767   
Gene and transcription
Genbank (Entrez)AF042498 BC140364 BC156722 BM672421 BM678849
RefSeq transcript (Entrez)NM_001135639 NM_001286130 NM_001297
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_016351 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)CNGB1
Cluster EST : UnigeneHs.147062 [ NCBI ]
CGAP (NCI)Hs.147062
Alternative Splicing GalleryENSG00000070729
Gene ExpressionCNGB1 [ NCBI-GEO ]   CNGB1 [ EBI - ARRAY_EXPRESS ]   CNGB1 [ SEEK ]   CNGB1 [ MEM ]
Gene Expression Viewer (FireBrowse)CNGB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1258
GTEX Portal (Tissue expression)CNGB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14028   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14028  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14028
Splice isoforms : SwissVarQ14028
PhosPhoSitePlusQ14028
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_1 (PS00888)    CNMP_BINDING_2 (PS00889)    CNMP_BINDING_3 (PS50042)   
Domains : Interpro (EBI)CNGB1    cNMP-bd-like    cNMP-bd_CS    cNMP-bd_dom    Ion_trans_dom    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00027    pfam00520   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)CNGB1
DMDM Disease mutations1258
Blocks (Seattle)CNGB1
SuperfamilyQ14028
Human Protein AtlasENSG00000070729
Peptide AtlasQ14028
HPRD07204
IPIIPI00297656   IPI00646195   IPI00164347   
Protein Interaction databases
DIP (DOE-UCLA)Q14028
IntAct (EBI)Q14028
FunCoupENSG00000070729
BioGRIDCNGB1
STRING (EMBL)CNGB1
ZODIACCNGB1
Ontologies - Pathways
QuickGOQ14028
Ontology : AmiGOGolgi membrane  photoreceptor outer segment  retina homeostasis  intracellular cAMP activated cation channel activity  intracellular cGMP activated cation channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  integral component of plasma membrane  transport  cation transport  visual perception  sensory perception of smell  ligand-gated ion channel activity  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  cAMP binding  cGMP binding  Golgi-associated vesicle membrane  protein localization to organelle  photoreceptor cell outer segment organization  regulation of membrane potential  photoreceptor cell maintenance  detection of light stimulus involved in visual perception  ciliary membrane  potassium ion transmembrane transport  transmembrane transporter complex  
Ontology : EGO-EBIGolgi membrane  photoreceptor outer segment  retina homeostasis  intracellular cAMP activated cation channel activity  intracellular cGMP activated cation channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  integral component of plasma membrane  transport  cation transport  visual perception  sensory perception of smell  ligand-gated ion channel activity  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  cAMP binding  cGMP binding  Golgi-associated vesicle membrane  protein localization to organelle  photoreceptor cell outer segment organization  regulation of membrane potential  photoreceptor cell maintenance  detection of light stimulus involved in visual perception  ciliary membrane  potassium ion transmembrane transport  transmembrane transporter complex  
Pathways : KEGGOlfactory transduction    Phototransduction   
NDEx NetworkCNGB1
Atlas of Cancer Signalling NetworkCNGB1
Wikipedia pathwaysCNGB1
Orthology - Evolution
OrthoDB1258
GeneTree (enSembl)ENSG00000070729
Phylogenetic Trees/Animal Genes : TreeFamCNGB1
HOVERGENQ14028
HOGENOMQ14028
Homologs : HomoloGeneCNGB1
Homology/Alignments : Family Browser (UCSC)CNGB1
Gene fusions - Rearrangements
Fusion : MitelmanIL34/CNGB1 [16q22.1/16q21]  [t(16;16)(q21;q22)]  
Fusion: TCGAIL34 16q22.1 CNGB1 16q21 LUAD
Fusion: TCGAKIFC3 16q21 CNGB1 16q21 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNGB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNGB1
dbVarCNGB1
ClinVarCNGB1
1000_GenomesCNGB1 
Exome Variant ServerCNGB1
ExAC (Exome Aggregation Consortium)CNGB1 (select the gene name)
Genetic variants : HAPMAP1258
Genomic Variants (DGV)CNGB1 [DGVbeta]
DECIPHER (Syndromes)16:57988580-58005020  ENSG00000070729
CONAN: Copy Number AnalysisCNGB1 
Mutations
ICGC Data PortalCNGB1 
TCGA Data PortalCNGB1 
Broad Tumor PortalCNGB1
OASIS PortalCNGB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNGB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNGB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CNGB1
DgiDB (Drug Gene Interaction Database)CNGB1
DoCM (Curated mutations)CNGB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNGB1 (select a term)
intoGenCNGB1
Cancer3DCNGB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600724    613767   
Orphanet659   
MedgenCNGB1
Genetic Testing Registry CNGB1
NextProtQ14028 [Medical]
TSGene1258
GENETestsCNGB1
Huge Navigator CNGB1 [HugePedia]
snp3D : Map Gene to Disease1258
BioCentury BCIQCNGB1
ClinGenCNGB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1258
Chemical/Pharm GKB GenePA26662
Clinical trialCNGB1
Miscellaneous
canSAR (ICR)CNGB1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNGB1
EVEXCNGB1
GoPubMedCNGB1
iHOPCNGB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:57:01 CEST 2017

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